Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT06593951

Conditions

Progressive Myoclonus Epilepsy Type 1

EPM1

CSTB-related Disease

Myoclonus Epilepsies, Progressive

Unverricht-Lundborg Disease

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, highlighting the urgency for translational research into this condition. The primary objective of the registry is to determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1 and CSTB-null-related disease.

Conditions

Progressive Myoclonus Epilepsy Type 1

EPM1

CSTB-related Disease

Myoclonus Epilepsies, Progressive

Unverricht-Lundborg Disease

Study ID

NCT06593951

Start date

Oct 10, 2024

Status verified date

Mar, 2026

Completion date

Oct 1, 2030

Anticipated

Primary completion date

Oct 1, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Molecular diagnosis of EPM1-related disease
  • Access to web-based communication, including video-teleconference
  • Permanent address in the United States

Exclusion Criteria:

  • Not having such a diagnosis of EPM1-related disease.

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Unified Myoclonus Rating Scale (UMRS) [ Time Frame: 5 years ]
  • Creation of Biorepository [ Time Frame: 5 years ]
  • Assess Health-Related Quality of Life [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Darius Ebrahimi-Fakhari, MD, PhD.

617-355-0097movementdisorders@childrens.harvard.edu

Joshua Rong, BS.

617-355-0903movementdisorders@childrens.harvard.edu

Locations

Boston Childrens Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Darius Ebrahimi-Fakhari, MD, PhD.

617-355-0097movementdisorders@childrens.harvard.edu

Joshua Rong, BS

movementdisorders@childrens.harvard.edu

More Information

Sponsor

Boston Children's Hospital

Last update posted

Mar 18, 2026

Last verified

Mar, 2026

Keywords

  • Myoclonus
  • Progressive Myoclonus
  • CSTB
  • Non-epileptic action-induced myoclonus
  • Non-epileptic stimulus-induced myoclonus
  • Cerebellar disfunction
  • EPM1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2026-03-18.